Incidental Mutation 'IGL01469:Sgsm2'
ID 88206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgsm2
Ensembl Gene ENSMUSG00000038351
Gene Name small G protein signaling modulator 2
Synonyms D630003G22Rik, Rutbc1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # IGL01469
Quality Score
Status
Chromosome 11
Chromosomal Location 74740087-74787886 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74744697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 796 (I796L)
Ref Sequence ENSEMBL: ENSMUSP00000050496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057631] [ENSMUST00000081799]
AlphaFold Q80U12
Predicted Effect possibly damaging
Transcript: ENSMUST00000057631
AA Change: I796L

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351
AA Change: I796L

DomainStartEndE-ValueType
RUN 128 188 4.3e-18 SMART
low complexity region 453 476 N/A INTRINSIC
TBC 563 965 3.57e-34 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000081799
AA Change: I841L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351
AA Change: I841L

DomainStartEndE-ValueType
RUN 128 188 4.3e-18 SMART
low complexity region 446 453 N/A INTRINSIC
low complexity region 498 521 N/A INTRINSIC
TBC 608 1010 3.57e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123573
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 A G 4: 144,255,192 (GRCm39) Q204R possibly damaging Het
Actn2 C T 13: 12,325,796 (GRCm39) E60K possibly damaging Het
Alpk1 T C 3: 127,471,401 (GRCm39) probably null Het
Ccdc107 A G 4: 43,495,751 (GRCm39) N218S probably benign Het
Cdh23 A T 10: 60,433,504 (GRCm39) M60K probably benign Het
Cenpe A G 3: 134,934,567 (GRCm39) Q378R probably damaging Het
Dnaaf6rt A T 1: 31,262,510 (GRCm39) D164V probably damaging Het
Dnah8 T A 17: 30,902,688 (GRCm39) probably benign Het
Eif2b4 T C 5: 31,345,111 (GRCm39) D190G probably benign Het
Fmo5 A G 3: 97,558,884 (GRCm39) N448S probably benign Het
Gal3st2c A G 1: 93,937,039 (GRCm39) N328S probably benign Het
Gbf1 A T 19: 46,267,803 (GRCm39) E1271V probably damaging Het
Ifitm6 A T 7: 140,596,725 (GRCm39) V16D probably damaging Het
Ighv2-4 A G 12: 113,616,966 (GRCm39) probably null Het
Kng2 T A 16: 22,818,577 (GRCm39) K305I probably damaging Het
Lrp1 C T 10: 127,420,283 (GRCm39) R900Q probably damaging Het
Maml1 A G 11: 50,157,353 (GRCm39) M274T probably damaging Het
Med23 A G 10: 24,758,495 (GRCm39) E278G probably damaging Het
Myo1h A G 5: 114,499,330 (GRCm39) T164A probably damaging Het
Ncoa2 A T 1: 13,257,093 (GRCm39) S135R probably benign Het
Nrbf2 A G 10: 67,105,919 (GRCm39) L41P probably damaging Het
Or10a48 A G 7: 108,424,534 (GRCm39) V224A probably benign Het
Or1j13 T C 2: 36,369,836 (GRCm39) Y102C probably benign Het
Or1o11 T A 17: 37,756,426 (GRCm39) S5T probably benign Het
Or52e5 T A 7: 104,719,595 (GRCm39) M307K probably benign Het
Or6c6 A G 10: 129,186,449 (GRCm39) M6V probably benign Het
Otoa T C 7: 120,754,496 (GRCm39) probably null Het
Plxnb1 T C 9: 108,934,483 (GRCm39) probably benign Het
Ppp1r42 A T 1: 10,073,458 (GRCm39) probably null Het
Rad54l2 T A 9: 106,599,957 (GRCm39) K100M probably damaging Het
Rnf112 T A 11: 61,342,167 (GRCm39) T308S possibly damaging Het
Scaper T C 9: 55,767,051 (GRCm39) D466G probably damaging Het
Shank3 T C 15: 89,405,477 (GRCm39) L476P probably damaging Het
Shkbp1 T C 7: 27,055,366 (GRCm39) T6A probably benign Het
Slc14a2 A T 18: 78,198,781 (GRCm39) I783N probably damaging Het
Stat1 A G 1: 52,186,529 (GRCm39) D447G possibly damaging Het
Tekt3 T G 11: 62,964,294 (GRCm39) I208S probably damaging Het
Tenm3 A T 8: 48,689,458 (GRCm39) V2043E probably damaging Het
Tgm3 T C 2: 129,866,414 (GRCm39) Y111H probably damaging Het
Tph2 T A 10: 114,915,664 (GRCm39) R459* probably null Het
Vmn2r109 T C 17: 20,761,671 (GRCm39) Y562C probably damaging Het
Other mutations in Sgsm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:Sgsm2 APN 11 74,756,242 (GRCm39) missense possibly damaging 0.90
IGL02236:Sgsm2 APN 11 74,750,698 (GRCm39) missense probably damaging 1.00
IGL02330:Sgsm2 APN 11 74,749,493 (GRCm39) missense probably benign 0.01
IGL02352:Sgsm2 APN 11 74,782,900 (GRCm39) splice site probably benign
IGL02359:Sgsm2 APN 11 74,782,900 (GRCm39) splice site probably benign
IGL03061:Sgsm2 APN 11 74,741,962 (GRCm39) missense probably damaging 1.00
IGL03180:Sgsm2 APN 11 74,759,401 (GRCm39) critical splice donor site probably null
R0208:Sgsm2 UTSW 11 74,759,067 (GRCm39) missense probably damaging 1.00
R0433:Sgsm2 UTSW 11 74,749,016 (GRCm39) splice site probably null
R0517:Sgsm2 UTSW 11 74,758,477 (GRCm39) missense possibly damaging 0.62
R0755:Sgsm2 UTSW 11 74,756,323 (GRCm39) missense probably damaging 1.00
R1439:Sgsm2 UTSW 11 74,759,964 (GRCm39) missense probably benign 0.34
R1527:Sgsm2 UTSW 11 74,744,674 (GRCm39) nonsense probably null
R1713:Sgsm2 UTSW 11 74,787,652 (GRCm39) missense probably null 0.04
R1962:Sgsm2 UTSW 11 74,782,854 (GRCm39) missense probably damaging 1.00
R2189:Sgsm2 UTSW 11 74,743,908 (GRCm39) missense probably damaging 1.00
R4259:Sgsm2 UTSW 11 74,782,854 (GRCm39) missense probably damaging 1.00
R4261:Sgsm2 UTSW 11 74,782,854 (GRCm39) missense probably damaging 1.00
R4408:Sgsm2 UTSW 11 74,742,592 (GRCm39) missense probably damaging 0.99
R4590:Sgsm2 UTSW 11 74,741,958 (GRCm39) missense probably damaging 1.00
R6137:Sgsm2 UTSW 11 74,741,677 (GRCm39) missense probably damaging 1.00
R6162:Sgsm2 UTSW 11 74,782,847 (GRCm39) missense probably damaging 1.00
R6457:Sgsm2 UTSW 11 74,755,995 (GRCm39) missense possibly damaging 0.77
R6681:Sgsm2 UTSW 11 74,756,204 (GRCm39) missense probably damaging 0.99
R6722:Sgsm2 UTSW 11 74,756,250 (GRCm39) missense probably damaging 1.00
R6986:Sgsm2 UTSW 11 74,782,867 (GRCm39) missense probably damaging 1.00
R7205:Sgsm2 UTSW 11 74,745,319 (GRCm39) missense possibly damaging 0.88
R7209:Sgsm2 UTSW 11 74,745,151 (GRCm39) missense probably damaging 0.98
R7655:Sgsm2 UTSW 11 74,756,323 (GRCm39) missense probably damaging 1.00
R7656:Sgsm2 UTSW 11 74,756,323 (GRCm39) missense probably damaging 1.00
R8526:Sgsm2 UTSW 11 74,759,847 (GRCm39) missense probably benign 0.17
R9112:Sgsm2 UTSW 11 74,756,222 (GRCm39) nonsense probably null
R9184:Sgsm2 UTSW 11 74,782,834 (GRCm39) missense possibly damaging 0.63
R9226:Sgsm2 UTSW 11 74,748,960 (GRCm39) missense possibly damaging 0.72
R9391:Sgsm2 UTSW 11 74,744,630 (GRCm39) missense probably damaging 1.00
R9458:Sgsm2 UTSW 11 74,759,557 (GRCm39) missense possibly damaging 0.47
Posted On 2013-11-18